Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.[29942767C>T;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G] , CM000668.2:g.[29942767C>T;29942886G>A;29942954G>A;29942965G>C;29942982T>C;29942984G>A;29943024C>A;29943309T>C;29943413G>A;29943445C>T;29943451A>C;29943462T>C;29943463T>G;29943469C>T;29943479T>G;29943483A>C;29943484C>G;29943494G>C;29943495T>G]	GRCh38
NC_000006.11:g.[29910544C>T;29910663G>A;29910731G>A;29910742G>C;29910759T>C;29910761G>A;29910801C>A;29911086T>C;29911190G>A;29911222C>T;29911228A>C;29911239T>C;29911240T>G;29911246C>T;29911256T>G;29911260A>C;29911261C>G;29911271G>C;29911272T>G] , CM000668.1:g.[29910544C>T;29910663G>A;29910731G>A;29910742G>C;29910759T>C;29910761G>A;29910801C>A;29911086T>C;29911190G>A;29911222C>T;29911228A>C;29911239T>C;29911240T>G;29911246C>T;29911256T>G;29911260A>C;29911261C>G;29911271G>C;29911272T>G]	GRCh37
NC_000006.10:g.[30018523C>T;30018642G>A;30018710G>A;30018721G>C;30018738T>C;30018740G>A;30018780C>A;30019065T>C;30019169G>A;30019201C>T;30019207A>C;30019218T>C;30019219T>G;30019225C>T;30019235T>G;30019239A>C;30019240C>G;30019250G>C;30019251T>G]	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000638375.2:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000492789.2:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706892.1:n.[360C>T;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G]
ENST00000706893.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516609.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706894.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516610.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706895.1:n.[360C>T;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G]
ENST00000706896.1:n.[360C>T;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G]
ENST00000706897.1:n.[360C>T;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G]
ENST00000706898.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516611.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706899.1:n.[360C>T;479G>A;547G>A;558G>C;575T>C;577G>A;617C>A;661T>C;765G>A;797C>T;803A>C;814T>C;815T>G;821C>T;831T>G;835A>C;836C>G;846G>C;847T>G]
ENST00000706900.1:c.[-1C>T;119G>A;187G>A;198G>C;215T>C;217G>A;257C>A;301T>C;405G>A;437C>T;443A>C;454T>C;455T>G;461C>T;471T>G;475A>C;476C>G;486G>C;487T>G]	ENSP00000516617.1:p.[Arg40Lys;Val63Met;Gln66His;Val72Ala;Asp7...
ENST00000706901.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516612.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706902.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516613.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706903.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516614.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706904.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516615.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000706905.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000516616.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000376809.10:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G] MANE Select	ENSP00000366005.5:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000638375.1:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000492789.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000376802.2:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000365998.2:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000376806.9:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000366002.5:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000376809.9:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000366005.5:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000396634.5:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	ENSP00000379873.1:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100...
ENST00000461903.1:n.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G]
ENST00000479320.5:n.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;626T>C;730G>A;762C>T;768A>C;779T>C;780T>G;786C>T;796T>G;800A>C;801C>G;811G>C;812T>G]
ENST00000495183.5:n.[86C>T;205G>A;273G>A;284G>C;301T>C;303G>A;343C>A;628T>C;732G>A;764C>T;770A>C;781T>C;782T>G;788C>T;798T>G;802A>C;803C>G;813G>C;814T>G]
ENST00000496081.5:n.[90C>T;177+32G>A;177+100G>A;177+111G>C;177+128T>C;177+130G>A;177+170C>A;202T>C;306G>A;338C>T;344A>C;355T>C;356T>G;362C>T;372T>G;376A>C;377C>G;387G>C;388T>G]
NM_002116.7:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G]	NP_002107.3:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100_Asp10...
NM_002116.8:c.[84C>T;203G>A;271G>A;282G>C;299T>C;301G>A;341C>A;385T>C;489G>A;521C>T;527A>C;538T>C;539T>G;545C>T;555T>G;559A>C;560C>G;570G>C;571T>G] MANE Select	NP_002107.3:p.[Ser28=;Arg68Lys;Val91Met;Gln94His;Val100Ala;As...